A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review

ConclusionsThe patient was twice diagnosed with cardiac insufficiency, neglecting the usual manifestations of muscle weakness, resulting in misdiagnosis. Later, novel variants in theRBCK1 gene were discovered through whole-exome sequencing, and symptomatic treatment was given after diagnosis. The importance of whole-exome sequencing technology in disease diagnosis and genetic counseling was emphasized.

Source: Molecular Genetics & Genomic Medicine - April 8, 2024 Category: Genetics & Stem Cells Authors: Qiqing Sun, Zhenhua Xie, Lifang Song, Dapeng Fu Tags: CLINICAL REPORT Source Type: research